Variant report

Variant	rs11944598
Chromosome Location	chr4:127552082-127552083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127545018..127547508-chr4:127549655..127552458,2	K562	blood:
2	chr4:127542507..127544867-chr4:127550672..127553414,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10019530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10033505	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940338	0.81[AMR][1000 genomes]
rs17011310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1808036	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1808037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28410886	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28415381	0.90[AMR][1000 genomes]
rs28497310	1.00[EUR][1000 genomes]
rs28707018	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28775994	1.00[AMR][1000 genomes]
rs28783114	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28863549	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4623016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6849105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6851103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846058	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995088	1.00[AMR][1000 genomes]
rs9999892	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127549000-127553000	Weak transcription	K562	blood
2	chr4:127551400-127552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:127551400-127552200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:127551400-127552200	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:127551400-127552200	Enhancers	Right Ventricle	heart
6	chr4:127551600-127552200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:127551600-127552200	Flanking Active TSS	NHDF-Ad	bronchial
8	chr4:127552000-127552200	Active TSS	Fetal Heart	heart
9	chr4:127552000-127552200	Enhancers	Gastric	stomach

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